Canavan disease is one of the most common Ashkenazi Jewish genetic conditions. 1 in 40 Ashkenazi Jews are carriers of Canavan disease. As a result of this high carrier rate and the seriousness of the condition, the American College of Medical Genetics and the American College of Obstetrics and Gynecology recommend Canavan carrier screening for all Ashkenazi Jewish individuals before pregnancy. ( Here’s the ACMG statement )
Canavan disease characterized by developmental delay, a large size head, seizures, blindness, and gastrointestinal problems.
Genetic testing is available to determine if a person is a carrier of Canavan disease. Testing can identify about 97% of Ashkenazi Jewish carriers.
1 in 5,000 Jews have Canavan disease. (With carrier screening, it’s likely that this number is shrinking.)
Canavan disease is caused by a deficiency of an enzyme, aspartoacylase. This enzyme is necessary for the maintenance of the myelin sheaths of nerve cells. Deficiency in the enzyme causes progressive degeneration of the central nervous system.
No treatment is currently available for Canavan disease.